CYP2R1 mutations impair generation of 25-hydroxyvitamin D and cause an atypical form of vitamin D deficiency

Medicine & Life Sciences

• 25-hydroxyvitamin D 92%
• Vitamin D Deficiency 89%
• Rickets 82%
• Vitamin D 73%
• Mixed Function Oxygenases 70%
• Mutation 44%
• 1,25-dihydroxyvitamin D 21%
• Genes 18%
• Hydroxylation 18%
• Missense Mutation 16%
• Computer Simulation 14%
• Serum 14%
• In Vitro Techniques 13%
• Child 13%
• Oral Administration 13%
• Homeostasis 11%
• Alleles 11%
• Hormones 11%
• Health Care Outcome Assessment 10%
• Liver 8%
• Proteins 5%

Chemical Compounds

• Vitamin D 100%
• Mutation 66%
• Hormone 11%
• Substitution Reaction 7%
• Protein 4%